Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

11 December 2020: Articles

Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report

Unusual clinical course

Diane R. Koeller * , Alison Schwartz * , Danielle K. Manning B , Fei Dong B , Neal I. Lindeman D , Judy E. Garber D , Arezou A. Ghazani A*

DOI: 10.12659/AJCR.927293

Am J Case Rep 2020; 21:e927293

Figure 2. The somatic OncoPanel (BWH Pathology, Boston, MA, USA.) profile obtained from the retroperitoneal lymph node biopsy showed multiple copy number changes consistent with the patient’s RCC. (A) An all chromosome view of the sample copy number plot. Each contiguously baited segment is represented by a dot, the read counts were normalized against a panel of normal samples and the log2 ratios were plotted. (B) One single-copy loss in 3p encompassing 3p25.3 where the VHL gene resides on the chromosome. (C) Single-copy gain along chromosome 5 encompassing 5q22.2 where the APC gene resides on the chromosome. (D) Single-copy gain of a part of 16p. Axis labels and descriptions: Nucleotide position of baited regions (×1000) (X-axis); log2 ratio (Y-axis, left). % GC, graphical representation of the GC content of each segment in blue (Y-axis, right). The vertical line in each panel delineates the position of the centromere in each chromosome. Copy number calls were made using an adaptive calling method that adjusts the threshold per sample. For 3p, chromosome 5, and 16p, the average log2 ratios were −0.38, 0.26, and 0.34, respectively. Gains and losses were called respectively, using thresholds of 0.25 and −0.32.

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923